Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The binding of vital anionic phthalocyanine dye Heliogen blue K (HBK) by crab axons has been studied cytophotometrically. HBK koes not penetrate the cell but stains membranes selectively. The removal of Ca-ions from the surrounding artificial sea water (a.s.w.) leads to an obvious desorption of an ion-bound fraction of HBK from the fibre, provided the removal of Ca-ions from a.s.w. is combinded with slight hypotonia or with addition of EDTA. The hypotonia, which has no effect on sorption, causes swelling of fibres facilitating the removal of Ca-ions from membrane, i.e. the effect similar to that of EDTA. In the Ca-ions devoid hypotonic solution, the decrease of sorbed dye makes up 1.4% per minute of the initial concentration, and in the hypotonic solution with EDTA - this decrease reaches 0.95%. It is suggested that the withdrawal of Ca-ions from the membrane results in conformational changes of the membrane protein component. These changes are expressed as redistribution of changes, detected with the aid of the HBK anion.
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PMID:[Effect of calcium ions on sorption of phthalocyanin dye by membranes of individual nerve fibers]. 82 34

Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene SLC30A10. We are reporting the clinical features of this rare disorder in two Saudi brothers. The older brother presented with progressive gait difficulties, hypotonia, intermittent dystonia, polycythemia, and characteristic T1-hyperintense lesions on MRI brain. SLC30A10 sequencing identified a novel missense mutation. The younger brother was identified in presymptomatic phase on family screening. Chelation therapy with disodium calcium edetate (ethylenediaminetetraacetic acid, EDTA) led to stabilization of gait, reduction in Mn levels, and resolution of polycythemia. We wish to highlight the atypical neurologic presentation, a novel missense mutation, and beneficial effect of EDTA in this rare disease.
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PMID:Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia. 2917 35